Mutagenetix > Incidental Mutation

Incidental Mutation 'R7226:Nrn1'

562179

Institutional Source

Beutler Lab

Gene Symbol

Nrn1

Ensembl Gene

ENSMUSG00000039114

Gene Name

neuritin 1

Synonyms

0710008J23Rik, cpg15

MMRRC Submission

045298-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R7226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36909596-36918451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36914577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 8 (R8C)

Ref Sequence

ENSEMBL: ENSMUSP00000113721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037623] [ENSMUST00000122286] [ENSMUST00000223611] [ENSMUST00000224323] [ENSMUST00000224960]

AlphaFold

Q8CFV4

Predicted Effect

probably benign
Transcript: ENSMUST00000037623

SMART Domains

Protein: ENSMUSP00000040900
Gene: ENSMUSG00000039114

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:NRN1	31	120	1e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122286
AA Change: R8C

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113721
Gene: ENSMUSG00000039114
AA Change: R8C

Domain	Start	End	E-Value	Type
Pfam:NRN1	47	133	2.7e-42	PFAM
transmembrane domain	134	156	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223611

Predicted Effect

probably benign
Transcript: ENSMUST00000224323
AA Change: R8C

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000224960

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body length and body weight, delayed axonal, dendritic, and synaptic development, reduced dendritic spine maintenance leading to gradual spine loss, and impaired associative and spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025B11Rik	C	T	15: 77,443,189 (GRCm39)	V17I	unknown	Het
Acad8	T	A	9: 26,889,726 (GRCm39)	K323*	probably null	Het
Adam18	A	T	8: 25,137,824 (GRCm39)	C339S	probably damaging	Het
Anxa7	A	G	14: 20,510,263 (GRCm39)	F396L	probably damaging	Het
Ap2m1	T	A	16: 20,358,201 (GRCm39)	V73D	probably damaging	Het
Asic2	A	T	11: 80,862,340 (GRCm39)	I270N	probably damaging	Het
Atrn	T	G	2: 130,828,664 (GRCm39)	C1070G	probably damaging	Het
Bag6	A	G	17: 35,361,921 (GRCm39)	N517S	unknown	Het
Bhmt1b	A	G	18: 87,775,590 (GRCm39)	D371G	possibly damaging	Het
Bltp3b	A	T	10: 89,644,503 (GRCm39)	Q1181L	probably benign	Het
Cavin1	A	C	11: 100,861,284 (GRCm39)	D3E	probably benign	Het
Cc2d2b	T	C	19: 40,779,751 (GRCm39)	L571P	unknown	Het
Ccbe1	A	T	18: 66,216,199 (GRCm39)	C175S	probably damaging	Het
Cd19	A	G	7: 126,013,995 (GRCm39)	L5P	unknown	Het
Cd46	A	G	1: 194,724,314 (GRCm39)	S362P	possibly damaging	Het
Celf5	A	G	10: 81,303,863 (GRCm39)	S198P	probably damaging	Het
Cep170b	A	G	12: 112,704,359 (GRCm39)	R706G	possibly damaging	Het
Chd3	G	T	11: 69,260,037 (GRCm39)	R61S	unknown	Het
Cpsf6	A	C	10: 117,197,727 (GRCm39)	W253G	unknown	Het
Cyp27a1	G	A	1: 74,776,507 (GRCm39)	G481D	probably damaging	Het
Ddr1	C	T	17: 36,002,039 (GRCm39)	D218N	possibly damaging	Het
Dhx34	A	T	7: 15,932,801 (GRCm39)	V1046D	probably damaging	Het
Dhx9	A	T	1: 153,341,423 (GRCm39)	D608E	probably benign	Het
Dnajc6	C	A	4: 101,496,569 (GRCm39)	A912E	probably damaging	Het
Ehmt1	T	C	2: 24,694,794 (GRCm39)	D1051G	probably damaging	Het
Fam217b	C	A	2: 178,062,996 (GRCm39)	A320E	probably benign	Het
Farsa	T	A	8: 85,590,689 (GRCm39)	I169N	probably benign	Het
Fbn2	A	G	18: 58,170,142 (GRCm39)	C2210R	probably damaging	Het
Fbxo3	T	A	2: 103,880,642 (GRCm39)	S251T	probably benign	Het
Fer1l6	C	T	15: 58,462,384 (GRCm39)	T813I	probably benign	Het
Ftl1-ps1	A	T	13: 74,555,114 (GRCm39)	E131V	probably damaging	Het
Gins3	T	A	8: 96,364,499 (GRCm39)	I83N	probably damaging	Het
Gja3	T	C	14: 57,273,350 (GRCm39)	T341A	probably benign	Het
Gja5	A	G	3: 96,958,174 (GRCm39)	Y77C	probably damaging	Het
Gm7247	A	G	14: 51,602,808 (GRCm39)	K48R	probably damaging	Het
Gsx2	C	A	5: 75,236,621 (GRCm39)	S67*	probably null	Het
H2-Q5	T	A	17: 35,616,089 (GRCm39)	L217Q		Het
Impg2	T	A	16: 56,087,467 (GRCm39)	C1095*	probably null	Het
Itga7	G	T	10: 128,776,801 (GRCm39)	W222L	probably damaging	Het
Kdm2b	T	A	5: 123,059,512 (GRCm39)	D530V	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,344 (GRCm39)	D153V	probably damaging	Het
Lin28a	C	T	4: 133,733,619 (GRCm39)	G143S	probably damaging	Het
Memo1	A	G	17: 74,509,338 (GRCm39)	L227S	probably damaging	Het
Mettl27	T	A	5: 134,964,657 (GRCm39)	V138E	probably damaging	Het
Mov10	G	T	3: 104,708,328 (GRCm39)	L474I	probably damaging	Het
Nat10	T	C	2: 103,557,098 (GRCm39)	N852S	probably benign	Het
Nfkbie	T	C	17: 45,870,153 (GRCm39)	V166A	possibly damaging	Het
Nktr	T	C	9: 121,575,599 (GRCm39)	M369T	probably damaging	Het
Nlrp9a	A	T	7: 26,258,149 (GRCm39)	N589I	probably benign	Het
Nrsn1	A	G	13: 25,437,451 (GRCm39)	I159T	probably damaging	Het
Or1e29	A	G	11: 73,667,503 (GRCm39)	S217P	possibly damaging	Het
Or2h15	C	T	17: 38,441,324 (GRCm39)	G253D	probably benign	Het
Or5p61	A	T	7: 107,758,164 (GRCm39)	D305E	probably benign	Het
Or6c88	G	A	10: 129,406,584 (GRCm39)	G20D	probably benign	Het
Osbp	T	A	19: 11,956,031 (GRCm39)	D385E	probably benign	Het
Pan3	T	A	5: 147,463,802 (GRCm39)	N547K	probably damaging	Het
Pip4p2	T	A	4: 14,892,464 (GRCm39)	D109E	probably damaging	Het
Pum1	C	A	4: 130,499,292 (GRCm39)	T1036K	probably damaging	Het
Rad54l2	C	A	9: 106,590,671 (GRCm39)	R485L	probably damaging	Het
Rps26	A	T	10: 128,461,087 (GRCm39)	F101I	unknown	Het
Sdsl	T	C	5: 120,598,702 (GRCm39)	N138S	probably benign	Het
Slc28a2b	C	A	2: 122,353,013 (GRCm39)	R453S	probably benign	Het
Slc39a6	A	T	18: 24,717,084 (GRCm39)	H649Q	probably damaging	Het
Snip1	T	A	4: 124,965,273 (GRCm39)	F226Y	probably benign	Het
Srrd	T	C	5: 112,485,322 (GRCm39)	T334A	unknown	Het
St14	C	T	9: 31,011,448 (GRCm39)	D448N	possibly damaging	Het
Tmem270	T	A	5: 134,930,538 (GRCm39)	Q241L	probably benign	Het
Tubb4b	T	C	2: 25,114,180 (GRCm39)	D41G	probably benign	Het
Usf3	T	C	16: 44,040,368 (GRCm39)	M1616T	possibly damaging	Het
Vmn2r95	A	T	17: 18,672,245 (GRCm39)	I733F	possibly damaging	Het
Zfp976	A	T	7: 42,262,684 (GRCm39)	C385*	probably null	Het

Other mutations in Nrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Nrn1	APN	13	36,914,190 (GRCm39)	missense	probably damaging	1.00
IGL02801:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02816:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02838:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02859:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02881:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02900:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02927:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02938:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02942:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL03144:Nrn1	APN	13	36,914,080 (GRCm39)	critical splice donor site	probably null
IGL02802:Nrn1	UTSW	13	36,914,080 (GRCm39)	critical splice donor site	probably null
R0172:Nrn1	UTSW	13	36,914,544 (GRCm39)	missense	probably benign
R2126:Nrn1	UTSW	13	36,914,180 (GRCm39)	missense	probably damaging	1.00
R5986:Nrn1	UTSW	13	36,918,238 (GRCm39)	nonsense	probably null
R7426:Nrn1	UTSW	13	36,910,825 (GRCm39)	missense	probably damaging	1.00
R8224:Nrn1	UTSW	13	36,918,258 (GRCm39)	missense	probably damaging	0.98
R9294:Nrn1	UTSW	13	36,910,648 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGATGACCTATTTGCATTCGGTCC -3'
(R):5'- TGAGCTCCTGGCAAAGATCC -3'

Sequencing Primer
(F):5'- ACCTCTGGTGCAGATGGAG -3'
(R):5'- TCCTGGCAAAGATCCGGGTAC -3'

Posted On

2019-06-26